Dermatology Medical News about xeroderma pigmentosum

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A novel splice variant of the DNA-PKcs gene is associated with clinical and cellular radiosensitvity in a xeroderma pigmentosum patient
Journal of Medical Genetics, 10/12/09

Abbaszadeh F et al. – The authors provide evidence of a novel splice variant of the DNA–PKcs gene associated with radiosensitivity in a xeroderma pigmentosum patient and report the first double mutant in distinct DNA repair pathways being consistent with viability.

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